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Gene IDH1
Variant D279N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 D279N does not lie within any known functional domains of the Idh1 protein (UniProt.org). D279N results in cellular transformation in the context of IDH1 R132H (PMID: 36056177) and has been associated with acquired IDH1 inhibitor resistance with IDH1 R132C (PMID: 32380538; PMID: 36056177), but has not been individually characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 D279N

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Transcript NM_005896.4
gDNA chr2:g.208242009C>T
cDNA c.835G>A
Protein p.D279N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896.4 chr2:g.208242009C>T c.835G>A p.D279N RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208242009C>T c.835G>A p.D279N RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208242009C>T c.835G>A p.D279N RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208242009C>T c.835G>A p.D279N RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208242009C>T c.835G>A p.D279N RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208242009C>T c.835G>A p.D279N RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References